A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and βhCG serum concentrations are commonly used for screening Down syndrome. AFP deficiency is rare (estimated to be 1/105 000 newborns) an...

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Hlavní autoři: Petit, François M, Hébert, Marylise, Picone, Olivier, Brisset, Sophie, Maurin, Marie-Laure, Parisot, Frédéric, Capel, Liliane, Benattar, Clarisse, Sénat, Marie-Victoire, Tachdjian, Gérard, Labrune, Philippe
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
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Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986178/
https://ncbi.nlm.nih.gov/pubmed/18854864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.186
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